Human Genome Epidemiology Literature Finder
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Records 1 - 10 (of 10 Records) |
| Query Trace: Kallmann Syndrome and PROK2[original query] |
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| Loss-of-function mutations in the genes encoding prokineticin-2 or prokineticin receptor-2 cause autosomal recessive Kallmann syndrome. The Journal of clinical endocrinology and metabolism 2008 Oct 93 (10): 4113-8. Abreu Ana Paula, Trarbach Ericka Barbosa, de Castro Margaret, Frade Costa Elaine Maria, Versiani Beatriz, Matias Baptista Maria Tereza, Garmes Heraldo Mendes, Mendonca Berenice Bilharinho, Latronico Ana Claud |
| Genetic analysis in patients with Kallmann syndrome: coexistence of mutations in prokineticin receptor 2 and KAL1. Journal of andrology 0 30 (1): 41-5. Canto P, Munguía P, Söderlund D, Castro J J, Méndez J |
| CHD7 mutations in patients initially diagnosed with Kallmann syndrome--the clinical overlap with CHARGE syndrome. Clinical genetics 2009 Jan 75 (1): 65-71. Jongmans M C J, van Ravenswaaij-Arts C M A, Pitteloud N, Ogata T, Sato N, Claahsen-van der Grinten H L, van der Donk K, Seminara S, Bergman J E H, Brunner H G, Crowley W F, Hoefsloot L |
| A comparative phenotypic study of kallmann syndrome patients carrying monoallelic and biallelic mutations in the prokineticin 2 or prokineticin receptor 2 genes. The Journal of clinical endocrinology and metabolism 2010 Feb 95 (2): 659-69. Sarfati Julie, Guiochon-Mantel Anne, Rondard Philippe, Arnulf Isabelle, Garcia-Piñero Alfons, Wolczynski Slawomir, Brailly-Tabard Sylvie, Bidet Maud, Ramos-Arroyo Maria, Mathieu Michèle, Lienhardt-Roussie Anne, Morgan Graeme, Turki Zinet, Bremont Catherine, Lespinasse James, Du Boullay Hélène, Chabbert-Buffet Nathalie, Jacquemont Sébastien, Reach Gérard, De Talence Nicole, Tonella Paolo, Conrad Bernard, Despert Francois, Delobel Bruno, Brue Thierry, Bouvattier Claire, Cabrol Sylvie, Pugeat Michel, Murat Arnaud, Bouchard Philippe, Hardelin Jean-Pierre, Dodé Catherine, Young Jacqu |
| Genetic overlap in Kallmann syndrome, combined pituitary hormone deficiency, and septo-optic dysplasia. The Journal of clinical endocrinology and metabolism 2012 Feb . Raivio T, Avbelj M, McCabe MJ, Romero CJ, Dwyer AA, Tommiska J, Sykiotis GP, Gregory LC, Diaczok D, Tziaferi V, Elting MW, Padidela R, Plummer L, Martin C, Feng B, Zhang C, Zhou QY, Chen H, Mohammadi M, Quinton R, Sidis Y, Radovick S, Dattani MT, Pitteloud N |
| Greater prevalence of PROKR2 mutations in Kallmann syndrome patients from the Maghreb than in European patients. European journal of endocrinology / European Federation of Endocrine Societies 2013 Dec 169 (6): 805-9. Sarfati Julie, Fouveaut Corinne, Leroy Chrystel, Jeanpierre Marc, Hardelin Jean-Pierre, Dodé Catheri |
| Variations in PROKR2, but not PROK2, are associated with hypopituitarism and septo-optic dysplasia. The Journal of clinical endocrinology and metabolism 2013 Mar 98 (3): E547-57. McCabe Mark J, Gaston-Massuet Carles, Gregory Louise C, Alatzoglou Kyriaki S, Tziaferi Vaitsa, Sbai Oualid, Rondard Philippe, Masumoto Koh-hei, Nagano Mamoru, Shigeyoshi Yasufumi, Pfeifer Marija, Hulse Tony, Buchanan Charles R, Pitteloud Nelly, Martinez-Barbera Juan-Pedro, Dattani Mehul |
| Next-generation sequencing of patients with congenital anosmia. European journal of human genetics : EJHG 2017 12 25 (12): 1377-1387. Alkelai Anna, Olender Tsviya, Dode Catherine, Shushan Sagit, Tatarskyy Pavel, Furman-Haran Edna, Boyko Valery, Gross-Isseroff Ruth, Halvorsen Matthew, Greenbaum Lior, Milgrom Roni, Yamada Kazuya, Haneishi Ayumi, Blau Ilan, Lancet Dor |
| Genetic spectrum of Kallmann syndrome: Single-center experience and systematic review. Clinical endocrinology 2022 9 97 (6): 804-813. Patil Virendra A, Lila Anurag Ranjan, Shah Nalini, Arya Sneha, Sarathi Vijaya, Shah Ravikumar, Jadhav Swati S, Memon Saba Samad, Karlekar Manjiri, Bandgar Tush |
| Genetic Analysis of Patients with Congenital Hypogonadotropic Hypogonadism: A Case Series. International journal of molecular sciences 2023 4 24 (8): . Rossella Cannarella, Carmelo Gusmano, Rosita A Condorelli, Andrea Bernini, Jurgen Kaftalli, Paolo Enrico Maltese, Stefano Paolacci, Astrit Dautaj, Giuseppe Marceddu, Matteo Bertelli, Sandro La Vignera, Aldo E Caloge |
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